Canonical Allele Identifier: CA513174166

Gene: PCNT

Linked Data

• gnomAD v4: 21-46411926-G-A
• MyVariant Identifiers: chr21:g.47831840G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411926G>A , CM000683.2:g.46411926G>A	GRCh38
NC_000021.8:g.47831840G>A , CM000683.1:g.47831840G>A	GRCh37
NC_000021.7:g.46656268G>A	NCBI36
NG_008961.1:g.92805G>A
NG_008961.2:g.92805G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695527.1:n.198G>A
ENST00000695528.1:c.27G>A	ENSP00000511990.1:p.Gln9=
ENST00000695529.1:n.27G>A
ENST00000695558.1:c.5886G>A	ENSP00000512015.1:p.Gln1962=
ENST00000703224.1:c.*5096G>A	ENSP00000515242.1:n.*5096G>A
ENST00000359568.10:c.5853G>A MANE Select	ENSP00000352572.5:p.Gln1951=
ENST00000359568.9:c.5853G>A	ENSP00000352572.5:p.Gln1951=
ENST00000480896.5:n.6122G>A
NM_001315529.1:c.5499G>A	NP_001302458.1:p.Gln1833=
NM_006031.5:c.5853G>A	NP_006022.3:p.Gln1951=
XM_005261124.3:c.5886G>A	XP_005261181.1:p.Gln1962=
XM_011529593.1:c.5964G>A	XP_011527895.1:p.Gln1988=
XM_011529594.1:c.5934G>A	XP_011527896.1:p.Gln1978=
XM_005261124.5:c.5886G>A	XP_005261181.1:p.Gln1962=
XM_011529594.3:c.5934G>A	XP_011527896.1:p.Gln1978=
XM_017028362.2:c.5853G>A	XP_016883851.1:p.Gln1951=
XM_017028363.1:c.5532G>A	XP_016883852.1:p.Gln1844=
XM_024452082.1:c.4770G>A	XP_024307850.1:p.Gln1590=
XM_024452083.1:c.3666G>A	XP_024307851.1:p.Gln1222=
NM_006031.6:c.5853G>A MANE Select	NP_006022.3:p.Gln1951=
NM_001315529.2:c.5499G>A	NP_001302458.1:p.Gln1833=